chr5:80065442:G>C Detail (hg38) (THBS4)

Information

Genome

Assembly Position
hg19 chr5:79,361,265-79,361,265 View the variant detail on this assembly version.
hg38 chr5:80,065,442-80,065,442

HGVS

Type Transcript Protein
RefSeq NM_001306212.1:c.1159G>C NP_001293141.1:p.Ala387Pro
NM_001306213.1:c.1159G>C NP_001293142.1:p.Ala387Pro
NM_003248.5:c.1159G>C NP_003239.2:p.Ala387Pro
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.076
ToMMo:0.081
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.040

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 600715 OMIM
HGNC 11788 HGNC
Ensembl ENSG00000113296 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv21656919 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.013 myocardial infarction Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... BeFree 12482844 Detail
<0.001 arteriosclerosis In a recent large-scale genetic association study, a single nucleotide polymorph... BeFree 12952849 Detail
0.201 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
<0.001 coronary artery disease For the THBS-4 A387P polymorphism, additional studies are required to elucidate ... BeFree 12482844 Detail
0.094 myocardial infarction Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... BeFree 12482844 Detail
0.013 myocardial infarction Thrombospondin-4 1186G&gt;C (A387P) is a sex-dependent risk factor for myocardia... BeFree 16923428 Detail
0.008 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
0.013 myocardial infarction Replication of the association between the thrombospondin-4 A387P polymorphism a... BeFree 15131549 Detail
<0.001 Cardiovascular Diseases Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated wit... BeFree 22011848 Detail
<0.001 coronary artery disease Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S)... BeFree 12482844 Detail
0.003 atherosclerosis In a recent large-scale genetic association study, a single nucleotide polymorph... BeFree 12952849 Detail
0.013 myocardial infarction A missense variant of thrombospondin 4 (A387P) showed the strongest association,... BeFree 11723011 Detail
Annotation

Annotations

DescrptionSourceLinks
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T&gt;G sub... DisGeNET Detail
In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombosp... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
For the THBS-4 A387P polymorphism, additional studies are required to elucidate its role in prematur... DisGeNET Detail
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T&gt;G sub... DisGeNET Detail
Thrombospondin-4 1186G&gt;C (A387P) is a sex-dependent risk factor for myocardial infarction: a larg... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Replication of the association between the thrombospondin-4 A387P polymorphism and myocardial infarc... DisGeNET Detail
Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was ... DisGeNET Detail
Recently, polymorphisms in thrombospondin (THBS) genes coding for THBS-1 (N700S), THBS-2 (T&gt;G sub... DisGeNET Detail
In a recent large-scale genetic association study, a single nucleotide polymorphism in the thrombosp... DisGeNET Detail
A missense variant of thrombospondin 4 (A387P) showed the strongest association, with an adjusted od... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg38
Position
chr5:80,065,442-80,065,442
Variant Type
snv
Reference Allele
G
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
97.31
Standard deviation of sample read depth (HGVD)
44.49
Number of reference allele (HGVD)
2235
Number of alternative allele (HGVD)
185
Allele Frequency (HGVD)
0.07644628099173553
Gene Symbol (HGVD)
THBS4
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs1866389
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0813
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1363
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
346
East Asian Heterozygous Counts (ExAC)
330
East Asian Homozygous Counts (ExAC)
8
East Asian Allele Frequency (ExAC)
0.03998151143979663
Chromosome Counts in All Race (ExAC)
121390
Allele Counts in All Race (ExAC)
21645
Heterozygous Counts in All Race (ExAC)
17289
Homozygous Counts in All Race (ExAC)
2178
Allele Frequency in All Race (ExAC)
0.17830958069033692
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